A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequencin...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., Gloor, Gregory B., Puffenberger, Erik G., Strauss, Kevin A., Martens, Mildred B., Ramsay, David A., Rupar, C. Anthony, Siu, Victoria, Hegele, Robert A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668000/
https://ncbi.nlm.nih.gov/pubmed/19185282
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.017
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados